Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Cri-du-Chat syndrome
go back to main search page
Accession:DOID:12580 term browser browse the term
Definition:A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat. (DO)
Synonyms:exact_synonym: 5p Minus Syndrome;   5p Minus Syndromes;   5p Syndrome;   5p deletion syndrome;   5p deletion syndromes;   5p partial monosomy syndrome;   5p- Syndromes;   Cat Cry Syndrome;   Cat Cry Syndromes;   Chromosome 5 Short Arm Deletion Syndrome;   Chromosome 5p Deletion Syndrome;   Chromosome 5p- Syndrome;   Chromosome 5p- Syndromes;   Cri-du-Chat Syndromes;   crying cat syndrome;   crying cat syndromes;   deletion of short arm of chromosome 5 syndrome
 primary_id: MESH:D003410
 alt_id: OMIM:123450
 xref: GARD:6213;   ICD10CM:Q93.4;   ICD9CM:758.31;   NCI:C34518
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Cri-du-Chat syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12629597 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
Chromosome 5, Trisomy 5q term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
JBrowse link
G Lman2 lectin, mannose-binding 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,269,236...9,286,923
Ensembl chr17:9,269,022...9,287,265
JBrowse link
G Mxd3 Max dimerization protein 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,301,430...9,305,156
Ensembl chr17:9,301,399...9,305,157
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,305,349...9,308,389
Ensembl chr17:9,305,361...9,308,407
JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,308,363...9,310,568
Ensembl chr17:9,308,525...9,310,553
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      chromosomal deletion syndrome 1005
        Cri-du-Chat syndrome 7
          Chromosome 5, Monosomy 5q35 0
          Chromosome 5, Trisomy 5p 0
          Chromosome 5, Trisomy 5pter p13 3 0
          Chromosome 5, Trisomy 5q 6
          Chromosome 5, Uniparental Disomy 0
          Monosomy 5p 0
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    Cri-du-Chat syndrome 7
                      Chromosome 5, Monosomy 5q35 0
                      Chromosome 5, Trisomy 5p 0
                      Chromosome 5, Trisomy 5pter p13 3 0
                      Chromosome 5, Trisomy 5q 6
                      Chromosome 5, Uniparental Disomy 0
                      Monosomy 5p 0
paths to the root